Canonical Allele Identifier: CA388030191

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518347A>C (hg19) ; chr13:g.51944211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944211A>C , CM000675.2:g.51944211A>C	GRCh38
NC_000013.10:g.52518347A>C , CM000675.1:g.52518347A>C	GRCh37
NC_000013.9:g.51416348A>C	NCBI36
NG_008806.1:g.72284T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1657T>G	ENSP00000489512.2:n.*894-1657T>G
ENST00000673864.2:c.*1885T>G	ENSP00000501045.2:n.*1885T>G
ENST00000674147.2:c.2520T>G	ENSP00000500964.2:p.Asp840Glu
ENST00000242839.10:c.3141T>G MANE Select	ENSP00000242839.5:p.Asp1047Glu
ENST00000344297.9:c.2520T>G	ENSP00000342559.5:p.Asp840Glu
ENST00000400366.6:c.2808T>G	ENSP00000383217.3:p.Asp936Glu
ENST00000448424.7:c.2889T>G	ENSP00000416738.3:p.Asp963Glu
ENST00000673772.1:c.2907T>G	ENSP00000501168.1:p.Asp969Glu
ENST00000673867.1:n.3280T>G
ENST00000674126.1:n.3504T>G
ENST00000674147.1:c.2076T>G	ENSP00000500964.1:p.Asp692Glu
ENST00000242839.8:c.3141T>G	ENSP00000242839.4:p.Asp1047Glu
ENST00000344297.8:c.2520T>G	ENSP00000342559.5:p.Asp840Glu
ENST00000400366.5:c.2808T>G	ENSP00000383217.3:p.Asp936Glu
ENST00000400370.8:c.1851T>G	ENSP00000383221.3:p.Asp617Glu
ENST00000418097.7:c.2946T>G	ENSP00000393343.2:p.Asp982Glu
ENST00000448424.6:c.2907T>G	ENSP00000416738.2:p.Asp969Glu
ENST00000466629.1:n.361T>G
ENST00000634296.1:c.1022-1657T>G
ENST00000634308.1:c.*242T>G	ENSP00000489234.1:n.*242T>G
ENST00000634620.1:n.3885T>G
ENST00000634810.1:n.2486T>G
ENST00000634844.1:c.2997T>G	ENSP00000489398.1:p.Asp999Glu
ENST00000635406.1:n.487T>G
NM_000053.3:c.3141T>G	NP_000044.2:p.Asp1047Glu
NM_001005918.2:c.2520T>G	NP_001005918.1:p.Asp840Glu
NM_001243182.1:c.2808T>G	NP_001230111.1:p.Asp936Glu
XM_005266423.2:c.3045T>G	XP_005266480.1:p.Asp1015Glu
XM_005266424.3:c.3045T>G	XP_005266481.1:p.Asp1015Glu
XM_005266427.2:c.2907T>G	XP_005266484.1:p.Asp969Glu
XM_005266428.1:c.2889T>G	XP_005266485.1:p.Asp963Glu
XM_005266430.3:c.3141T>G	XP_005266487.1:p.Asp1047Glu
XM_005266431.2:c.3105T>G	XP_005266488.1:p.Asp1035Glu
XM_005266432.2:c.2655T>G	XP_005266489.1:p.Asp885Glu
XM_006719837.2:c.3045T>G	XP_006719900.1:p.Asp1015Glu
XM_006719838.1:c.957T>G	XP_006719901.1:p.Asp319Glu
XM_006719839.1:c.877-1657T>G	XP_006719902.1:n.877-1657T>G
XM_011535117.1:c.3045T>G	XP_011533419.1:p.Asp1015Glu
XM_011535118.1:c.3006T>G	XP_011533420.1:p.Asp1002Glu
XM_011535119.1:c.3061-1657T>G	XP_011533421.1:n.3061-1657T>G
XM_011535120.1:c.2727T>G	XP_011533422.1:p.Asp909Glu
XM_011535121.1:c.2731-1657T>G	XP_011533423.1:n.2731-1657T>G
XM_011535122.1:c.1809T>G	XP_011533424.1:p.Asp603Glu
XR_941601.1:n.3360T>G
XR_941602.1:n.3360T>G
XR_941603.1:n.3360T>G
XR_941604.1:n.3360T>G
NM_001330578.1:c.2907T>G	NP_001317507.1:p.Asp969Glu
NM_001330579.1:c.2889T>G	NP_001317508.1:p.Asp963Glu
XM_005266424.4:c.3045T>G	XP_005266481.1:p.Asp1015Glu
XM_005266430.4:c.3141T>G	XP_005266487.1:p.Asp1047Glu
XM_005266431.4:c.3105T>G	XP_005266488.1:p.Asp1035Glu
XM_006719837.3:c.3045T>G	XP_006719900.1:p.Asp1015Glu
XM_011535117.3:c.3045T>G	XP_011533419.1:p.Asp1015Glu
XM_017020627.1:c.3045T>G	XP_016876116.1:p.Asp1015Glu
NM_000053.4:c.3141T>G MANE Select	NP_000044.2:p.Asp1047Glu
NM_001005918.3:c.2520T>G	NP_001005918.1:p.Asp840Glu
NM_001330579.2:c.2889T>G	NP_001317508.1:p.Asp963Glu
NM_001243182.2:c.2808T>G	NP_001230111.1:p.Asp936Glu
NM_001330578.2:c.2907T>G	NP_001317507.1:p.Asp969Glu